ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) (rs146250226)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731009 SCV000618971 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing The S361C variant in the NPHP3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S361C variant is observed in 27/7898 (0.3%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The S361C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S361C as a variant of uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731009 SCV000858779 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764466 SCV000895531 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001086831 SCV001001650 likely benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing

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